8 research outputs found

    A novel <i>LPL</i> intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels - Fig 4

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    <p>Comparison of the frequencies of rare (a) and common (b) variants identified at the <i>LPL</i> gene locus in the Kuwaiti Arab samples (n = 100), non-Hispanic whites (n = 95; Pirim et al., 2014) and American Africans (n = 95; Pirim et al., 2015). The variants identified in this study are shown based on their location across the 30Kb gene. The minor allele frequencies are based on gene build 89 and genome assembly GRCh38 [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0192617#pone.0192617.ref026" target="_blank">26</a>].</p

    A summary of the 47 novel variants identified by re-sequencing the full <i>LPL</i> gene locus and flanking sequences based on genome assembly GRch38.p10 [26].

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    <p>A summary of the 47 novel variants identified by re-sequencing the full <i>LPL</i> gene locus and flanking sequences based on genome assembly GRch38.p10 [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0192617#pone.0192617.ref026" target="_blank">26</a>].</p

    Multivariate analysis using linear regression to predict the effect of KUA LPL-27 genotypes ss2137497749 on HDL, TG and VLDL levels in the Kuwaiti cohort (n = 702).

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    <p>Multivariate analysis using linear regression to predict the effect of KUA LPL-27 genotypes <a href="https://www.ncbi.nlm.nih.gov/SNP/snp_ss.cgi?ss=ss2137497750" target="_blank">ss2137497749</a> on HDL, TG and VLDL levels in the Kuwaiti cohort (n = 702).</p

    A novel <i>LPL</i> intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels

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    <div><p>The role interethnic genetic differences play in plasma lipid level variation across populations is a global health concern. Several genes involved in lipid metabolism and transport are strong candidates for the genetic association with lipid level variation especially lipoprotein lipase (<i>LPL</i>). The objective of this study was to re-sequence the full <i>LPL</i> gene in Kuwaiti Arabs, analyse the sequence variation and identify variants that could attribute to variation in plasma lipid levels for further genetic association. Samples (n = 100) of an Arab ethnic group from Kuwait were analysed for sequence variation by Sanger sequencing across the 30 Kb <i>LPL</i> gene and its flanking sequences. A total of 293 variants including 252 single nucleotide polymorphisms (SNPs) and 39 insertions/deletions (InDels) were identified among which 47 variants (32 SNPs and 15 InDels) were novel to Kuwaiti Arabs. This study is the first to report sequence data and analysis of frequencies of variants at the <i>LPL</i> gene locus in an Arab ethnic group with a novel “rare” variant (<i>LPL</i>:g.18704C>A) significantly associated to HDL (B = -0.181; 95% CI (-0.357, -0.006); p = 0.043), TG (B = 0.134; 95% CI (0.004–0.263); p = 0.044) and VLDL (B = 0.131; 95% CI (-0.001–0.263); p = 0.043) levels. Sequence variation in Kuwaiti Arabs was compared to other populations and was found to be similar with regards to the number of SNPs, InDels and distribution of the number of variants across the <i>LPL</i> gene locus and minor allele frequency (MAF). Moreover, comparison of the identified variants and their MAF with other reports provided a list of 46 potential variants across the <i>LPL</i> gene to be considered for future genetic association studies. The findings warrant further investigation into the association of g.18704C>A with lipid levels in other ethnic groups and with clinical manifestations of dyslipidemia.</p></div

    Comparison of the variants based on the minor allele frequencies (MAF) identified across the <i>LPL</i> gene locus in different populations including the Kuwaiti Arab samples from this study.

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    <p>Comparison of the variants based on the minor allele frequencies (MAF) identified across the <i>LPL</i> gene locus in different populations including the Kuwaiti Arab samples from this study.</p
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